DHX58[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 2329461	NM_024119.3(DHX58):c.2029C>G (p.Leu677Val)	DHX58 (L677V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370587	NM_024119.3(DHX58):c.2023C>T (p.Leu675Phe)	DHX58 (L675F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 983447	NM_024119.3(DHX58):c.1910G>A (p.Ser637Asn)	DHX58 (S637N)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3082329	NM_024119.3(DHX58):c.1846G>T (p.Gly616Trp)	DHX58 (G616W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533618	NM_024119.3(DHX58):c.1828A>T (p.Ile610Phe)	DHX58 (I610F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277386	NM_024119.3(DHX58):c.1823G>T (p.Gly608Val)	DHX58 (G608V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477175	NM_024119.3(DHX58):c.1816C>G (p.Pro606Ala)	DHX58 (P606A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616446	NM_024119.3(DHX58):c.1795A>G (p.Lys599Glu)	DHX58 (K599E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316993	NM_024119.3(DHX58):c.1642C>A (p.Pro548Thr)	DHX58 (P548T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082328	NM_024119.3(DHX58):c.1631G>A (p.Arg544Gln)	DHX58 (R544Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3082327	NM_024119.3(DHX58):c.1626C>A (p.Asn542Lys)	DHX58 (N542K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611211	NM_024119.3(DHX58):c.1619G>A (p.Arg540Gln)	DHX58 (R540Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546476	NM_024119.3(DHX58):c.1601C>T (p.Ala534Val)	DHX58 (A534V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459202	NM_024119.3(DHX58):c.1561A>C (p.Lys521Gln)	DHX58 (K521Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512521	NM_024119.3(DHX58):c.1549G>A (p.Glu517Lys)	DHX58 (E517K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221129	NM_024119.3(DHX58):c.1539G>T (p.Met513Ile)	DHX58 (M513I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082325	NM_024119.3(DHX58):c.1513C>G (p.Gln505Glu)	DHX58 (Q505E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082324	NM_024119.3(DHX58):c.1511A>G (p.Glu504Gly)	DHX58 (E504G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271937	NM_024119.3(DHX58):c.1469T>C (p.Leu490Pro)	DHX58 (L490P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589956	NM_024119.3(DHX58):c.1463G>A (p.Arg488Gln)	DHX58 (R488Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546064	NM_024119.3(DHX58):c.1448C>T (p.Ala483Val)	DHX58 (A483V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373148	NM_024119.3(DHX58):c.1438G>A (p.Ala480Thr)	DHX58 (A480T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725550	NM_024119.3(DHX58):c.1429_1430del (p.Ser477fs)	DHX58 (S477fs)	Microsatellite (frameshift variant)	not provided	GLikely benign
Select item 2289755	NM_024119.3(DHX58):c.1357G>A (p.Val453Met)	DHX58 (V453M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461595	NM_024119.3(DHX58):c.1339A>T (p.Ile447Phe)	DHX58 (I447F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410217	NM_024119.3(DHX58):c.1316G>A (p.Ser439Asn)	DHX58 (S439N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356160	NM_024119.3(DHX58):c.1313C>A (p.Thr438Lys)	DHX58 (T438K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300953	NM_024119.3(DHX58):c.1291A>G (p.Thr431Ala)	DHX58 (T431A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1278116	NM_024119.3(DHX58):c.1274A>G (p.Gln425Arg)	DHX58 (Q425R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2520349	NM_024119.3(DHX58):c.1220G>A (p.Gly407Glu)	DHX58 (G407E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082323	NM_024119.3(DHX58):c.1196G>C (p.Arg399Pro)	DHX58 (R399P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369447	NM_024119.3(DHX58):c.1195C>T (p.Arg399Trp)	DHX58 (R399W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250798	NM_024119.3(DHX58):c.1130G>A (p.Arg377His)	DHX58 (R377H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213172	NM_024119.3(DHX58):c.1129C>T (p.Arg377Cys)	DHX58 (R377C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517153	NM_024119.3(DHX58):c.1123C>T (p.Arg375Cys)	DHX58 (R375C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549657	NM_024119.3(DHX58):c.1022T>C (p.Leu341Ser)	DHX58 (L341S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375797	NM_024119.3(DHX58):c.1001G>A (p.Arg334His)	DHX58 (R334H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349206	NM_024119.3(DHX58):c.955C>G (p.Gln319Glu)	DHX58 (Q319E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082335	NM_024119.3(DHX58):c.942C>G (p.His314Gln)	DHX58 (H314Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548245	NM_024119.3(DHX58):c.942C>A (p.His314Gln)	DHX58 (H314Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551032	NM_024119.3(DHX58):c.939G>T (p.Glu313Asp)	DHX58 (E313D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251628	NM_024119.3(DHX58):c.929A>G (p.Tyr310Cys)	DHX58 (Y310C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082334	NM_024119.3(DHX58):c.911C>T (p.Ala304Val)	DHX58 (A304V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082333	NM_024119.3(DHX58):c.830A>G (p.Gln277Arg)	DHX58 (Q277R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1701736	NM_024119.3(DHX58):c.675_676insT (p.Gln226fs)	DHX58 (Q226fs)	Insertion (frameshift variant)	DHX58-associated Neurodevelopmental disorder	GUncertain significance
Select item 2456063	NM_024119.3(DHX58):c.671G>A (p.Arg224His)	DHX58 (R224H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395230	NM_024119.3(DHX58):c.535G>A (p.Asp179Asn)	DHX58 (D179N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317485	NM_024119.3(DHX58):c.520G>A (p.Gly174Arg)	DHX58 (G174R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 978158	NM_024119.3(DHX58):c.472C>T (p.Gln158Ter)	DHX58 (Q158*)	Single nucleotide variant (nonsense)	See cases	GLikely benign
Select item 2366037	NM_024119.3(DHX58):c.421G>A (p.Val141Ile)	DHX58 (V141I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344802	NM_024119.3(DHX58):c.409C>T (p.His137Tyr)	DHX58 (H137Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395555	NM_024119.3(DHX58):c.407C>T (p.Thr136Met)	DHX58 (T136M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082332	NM_024119.3(DHX58):c.364C>T (p.Leu122Phe)	DHX58 (L122F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257480	NM_024119.3(DHX58):c.363G>C (p.Glu121Asp)	DHX58 (E121D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374596	NM_024119.3(DHX58):c.275A>G (p.His92Arg)	DHX58 (H92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554405	NM_024119.3(DHX58):c.265G>C (p.Gly89Arg)	DHX58 (G89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614808	NM_024119.3(DHX58):c.218G>A (p.Gly73Glu)	DHX58 (G73E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082331	NM_024119.3(DHX58):c.205C>T (p.Arg69Cys)	DHX58 (R69C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082330	NM_024119.3(DHX58):c.205C>A (p.Arg69Ser)	DHX58 (R69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275827	NM_024119.3(DHX58):c.197A>C (p.Glu66Ala)	DHX58 (E66A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236976	NM_024119.3(DHX58):c.182C>G (p.Thr61Ser)	DHX58 (T61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327828	NM_024119.3(DHX58):c.118C>T (p.Arg40Trp)	DHX58 (R40W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465461	NM_024119.3(DHX58):c.95G>A (p.Arg32Gln)	DHX58 (R32Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557823	NM_024119.3(DHX58):c.67T>C (p.Trp23Arg)	DHX58 (W23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271936	NM_024119.3(DHX58):c.34A>C (p.Met12Leu)	DHX58 (M12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311657	NM_024119.3(DHX58):c.20A>T (p.Gln7Leu)	DHX58 (Q7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3063506	GRCh37/hg19 17q21.2(chr17:39705863-40358580)x3	ACLY, CNP +25 more	Copy number gain	not specified	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 73